Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02315:Zzef1'

288004

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zzef1

Ensembl Gene

ENSMUSG00000055670

Gene Name

zinc finger, ZZ-type with EF hand domain 1

Synonyms

8430405D05Rik, C130099L13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02315

Quality Score

Status

Chromosome

Chromosomal Location

72687052-72817946 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 72766083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1537 (R1537*)

Ref Sequence

ENSEMBL: ENSMUSP00000147028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069395] [ENSMUST00000172220] [ENSMUST00000207107]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000069395
AA Change: R1537*

SMART Domains

Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670
AA Change: R1537*

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	28	68	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
APC10	246	397	2.65e-48	SMART
internal_repeat_1	1122	1192	1.25e-7	PROSPERO
low complexity region	1472	1485	N/A	INTRINSIC
low complexity region	1512	1525	N/A	INTRINSIC
ZnF_ZZ	1775	1823	2.54e-7	SMART
ZnF_ZZ	1824	1868	1.2e-8	SMART
low complexity region	1947	1963	N/A	INTRINSIC
low complexity region	2127	2140	N/A	INTRINSIC
low complexity region	2249	2263	N/A	INTRINSIC
internal_repeat_1	2657	2726	1.25e-7	PROSPERO
low complexity region	2840	2853	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172220
AA Change: R1537*

SMART Domains

Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670
AA Change: R1537*

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	28	68	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
APC10	246	397	2.65e-48	SMART
internal_repeat_1	1006	1192	1.57e-16	PROSPERO
low complexity region	1472	1485	N/A	INTRINSIC
low complexity region	1512	1525	N/A	INTRINSIC
ZnF_ZZ	1775	1823	2.54e-7	SMART
ZnF_ZZ	1824	1868	1.2e-8	SMART
low complexity region	1947	1963	N/A	INTRINSIC
low complexity region	2127	2140	N/A	INTRINSIC
low complexity region	2249	2263	N/A	INTRINSIC
internal_repeat_1	2583	2759	1.57e-16	PROSPERO
low complexity region	2873	2886	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000207107
AA Change: R1537*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	A	2: 35,266,185 (GRCm39)	I162F	probably damaging	Het
Akap8	T	C	17: 32,524,475 (GRCm39)	D607G	probably benign	Het
Ap2b1	G	A	11: 83,227,625 (GRCm39)	V327I	probably damaging	Het
Bmpr1b	A	G	3: 141,563,290 (GRCm39)	V218A	probably damaging	Het
Cfap157	T	A	2: 32,668,177 (GRCm39)	D421V	probably benign	Het
Ctsm	A	G	13: 61,687,462 (GRCm39)	V100A	probably benign	Het
Cwf19l2	C	T	9: 3,410,030 (GRCm39)	T53I	probably damaging	Het
Dst	T	C	1: 34,237,746 (GRCm39)	C3663R	probably damaging	Het
Fbxo10	T	A	4: 45,062,469 (GRCm39)	H19L	probably benign	Het
Ghitm	A	T	14: 36,853,521 (GRCm39)	N106K	probably benign	Het
Hivep2	T	C	10: 14,006,983 (GRCm39)	F1194L	probably benign	Het
Hpse2	A	G	19: 42,955,386 (GRCm39)		probably benign	Het
Ighv1-67	C	T	12: 115,567,687 (GRCm39)	G56D	probably benign	Het
Ikzf4	A	G	10: 128,470,014 (GRCm39)	F502S	probably damaging	Het
Lrrc24	A	T	15: 76,602,506 (GRCm39)	F126L	probably damaging	Het
Mapt	G	A	11: 104,218,904 (GRCm39)	R355Q	probably damaging	Het
Mug1	T	A	6: 121,817,126 (GRCm39)	V65E	probably benign	Het
Myh6	T	C	14: 55,191,291 (GRCm39)	E850G	probably damaging	Het
Myh9	C	A	15: 77,654,173 (GRCm39)	V1211L	probably benign	Het
Naip2	T	A	13: 100,297,744 (GRCm39)	D764V	probably damaging	Het
Or8d2b	G	A	9: 38,789,353 (GRCm39)	V294I	probably damaging	Het
Parp6	A	G	9: 59,549,021 (GRCm39)		probably benign	Het
Ppp4r4	C	T	12: 103,566,620 (GRCm39)		probably benign	Het
Pramel11	T	C	4: 143,624,498 (GRCm39)		probably benign	Het
Pxylp1	A	G	9: 96,721,196 (GRCm39)	L56P	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Skida1	T	C	2: 18,050,816 (GRCm39)		probably benign	Het
Slc35d2	A	G	13: 64,254,849 (GRCm39)	S210P	possibly damaging	Het
Slit2	C	T	5: 48,145,213 (GRCm39)	T71M	probably damaging	Het
Spem2	A	T	11: 69,708,191 (GRCm39)	L258Q	probably damaging	Het
Stxbp2	C	T	8: 3,685,607 (GRCm39)		probably benign	Het
Vit	G	A	17: 78,930,087 (GRCm39)	V351I	possibly damaging	Het
Zwilch	A	G	9: 64,057,549 (GRCm39)	S285P	probably damaging	Het

Other mutations in Zzef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Zzef1	APN	11	72,765,952 (GRCm39)	missense	probably benign	0.02
IGL00898:Zzef1	APN	11	72,765,999 (GRCm39)	missense	probably benign	0.00
IGL00970:Zzef1	APN	11	72,806,071 (GRCm39)	missense	probably benign	0.06
IGL01062:Zzef1	APN	11	72,765,795 (GRCm39)	missense	probably benign
IGL01832:Zzef1	APN	11	72,765,892 (GRCm39)	missense	probably damaging	0.99
IGL02005:Zzef1	APN	11	72,779,125 (GRCm39)	missense	probably benign	0.00
IGL02026:Zzef1	APN	11	72,772,164 (GRCm39)	missense	probably benign	0.39
IGL02110:Zzef1	APN	11	72,803,938 (GRCm39)	missense	probably damaging	1.00
IGL02305:Zzef1	APN	11	72,757,423 (GRCm39)	splice site	probably benign
IGL02308:Zzef1	APN	11	72,777,573 (GRCm39)	missense	probably benign	0.04
IGL02332:Zzef1	APN	11	72,807,335 (GRCm39)	missense	probably benign	0.01
IGL02389:Zzef1	APN	11	72,782,043 (GRCm39)	missense	probably benign
IGL02389:Zzef1	APN	11	72,790,364 (GRCm39)	missense	possibly damaging	0.89
IGL02451:Zzef1	APN	11	72,792,214 (GRCm39)	missense	probably damaging	0.99
IGL02541:Zzef1	APN	11	72,763,475 (GRCm39)	missense	probably damaging	1.00
IGL02950:Zzef1	APN	11	72,808,525 (GRCm39)	splice site	probably benign
IGL02953:Zzef1	APN	11	72,746,224 (GRCm39)	missense	probably benign
IGL03053:Zzef1	APN	11	72,722,365 (GRCm39)	splice site	probably benign
IGL03085:Zzef1	APN	11	72,746,350 (GRCm39)	splice site	probably benign
IGL03152:Zzef1	APN	11	72,814,008 (GRCm39)	critical splice donor site	probably null
IGL03329:Zzef1	APN	11	72,808,099 (GRCm39)	splice site	probably benign
IGL03376:Zzef1	APN	11	72,767,377 (GRCm39)	splice site	probably benign
IGL03394:Zzef1	APN	11	72,777,601 (GRCm39)	splice site	probably null
Dreidel	UTSW	11	72,799,295 (GRCm39)	nonsense	probably null
Hanukkah	UTSW	11	72,784,158 (GRCm39)	missense	probably benign	0.00
Mezuzah	UTSW	11	72,739,559 (GRCm39)	nonsense	probably null
BB005:Zzef1	UTSW	11	72,712,722 (GRCm39)	missense	probably damaging	0.99
BB015:Zzef1	UTSW	11	72,712,722 (GRCm39)	missense	probably damaging	0.99
PIT4508001:Zzef1	UTSW	11	72,786,002 (GRCm39)	missense	probably benign
PIT4581001:Zzef1	UTSW	11	72,790,498 (GRCm39)	missense	probably benign	0.00
PIT4810001:Zzef1	UTSW	11	72,741,571 (GRCm39)	missense	probably damaging	1.00
R0094:Zzef1	UTSW	11	72,708,791 (GRCm39)	missense	probably benign	0.01
R0119:Zzef1	UTSW	11	72,712,677 (GRCm39)	missense	probably benign
R0136:Zzef1	UTSW	11	72,712,677 (GRCm39)	missense	probably benign
R0140:Zzef1	UTSW	11	72,790,377 (GRCm39)	missense	possibly damaging	0.70
R0212:Zzef1	UTSW	11	72,764,736 (GRCm39)	missense	possibly damaging	0.66
R0217:Zzef1	UTSW	11	72,779,894 (GRCm39)	missense	probably damaging	1.00
R0220:Zzef1	UTSW	11	72,756,792 (GRCm39)	missense	probably damaging	1.00
R0304:Zzef1	UTSW	11	72,771,450 (GRCm39)	missense	probably benign	0.10
R0400:Zzef1	UTSW	11	72,786,068 (GRCm39)	missense	probably damaging	1.00
R0422:Zzef1	UTSW	11	72,756,917 (GRCm39)	missense	possibly damaging	0.93
R0471:Zzef1	UTSW	11	72,813,937 (GRCm39)	missense	probably damaging	1.00
R0557:Zzef1	UTSW	11	72,808,556 (GRCm39)	missense	probably damaging	1.00
R0581:Zzef1	UTSW	11	72,742,726 (GRCm39)	missense	probably benign	0.00
R0599:Zzef1	UTSW	11	72,804,004 (GRCm39)	missense	probably damaging	1.00
R0603:Zzef1	UTSW	11	72,708,895 (GRCm39)	missense	probably benign	0.00
R0657:Zzef1	UTSW	11	72,712,677 (GRCm39)	missense	probably benign
R0987:Zzef1	UTSW	11	72,792,159 (GRCm39)	small deletion	probably benign
R1246:Zzef1	UTSW	11	72,765,735 (GRCm39)	missense	probably benign	0.00
R1327:Zzef1	UTSW	11	72,784,240 (GRCm39)	critical splice donor site	probably null
R1438:Zzef1	UTSW	11	72,803,771 (GRCm39)	missense	probably damaging	0.96
R1466:Zzef1	UTSW	11	72,815,505 (GRCm39)	missense	probably damaging	1.00
R1466:Zzef1	UTSW	11	72,815,505 (GRCm39)	missense	probably damaging	1.00
R1485:Zzef1	UTSW	11	72,791,635 (GRCm39)	splice site	probably null
R1556:Zzef1	UTSW	11	72,806,059 (GRCm39)	missense	probably damaging	1.00
R1563:Zzef1	UTSW	11	72,739,559 (GRCm39)	nonsense	probably null
R1584:Zzef1	UTSW	11	72,815,505 (GRCm39)	missense	probably damaging	1.00
R1643:Zzef1	UTSW	11	72,717,028 (GRCm39)	missense	probably damaging	1.00
R1646:Zzef1	UTSW	11	72,754,862 (GRCm39)	critical splice donor site	probably null
R1764:Zzef1	UTSW	11	72,784,158 (GRCm39)	missense	probably benign	0.00
R1777:Zzef1	UTSW	11	72,801,098 (GRCm39)	missense	probably damaging	1.00
R1793:Zzef1	UTSW	11	72,777,535 (GRCm39)	missense	probably damaging	1.00
R1900:Zzef1	UTSW	11	72,739,540 (GRCm39)	missense	probably damaging	0.99
R2096:Zzef1	UTSW	11	72,763,465 (GRCm39)	missense	probably benign	0.02
R2134:Zzef1	UTSW	11	72,771,450 (GRCm39)	missense	probably benign	0.02
R2157:Zzef1	UTSW	11	72,739,460 (GRCm39)	splice site	probably benign
R2183:Zzef1	UTSW	11	72,777,544 (GRCm39)	nonsense	probably null
R2192:Zzef1	UTSW	11	72,800,982 (GRCm39)	splice site	probably null
R2230:Zzef1	UTSW	11	72,775,242 (GRCm39)	missense	probably damaging	0.99
R2259:Zzef1	UTSW	11	72,791,459 (GRCm39)	nonsense	probably null
R2384:Zzef1	UTSW	11	72,749,220 (GRCm39)	missense	probably damaging	0.99
R2426:Zzef1	UTSW	11	72,806,091 (GRCm39)	missense	probably benign	0.01
R2915:Zzef1	UTSW	11	72,801,152 (GRCm39)	splice site	probably null
R3700:Zzef1	UTSW	11	72,777,598 (GRCm39)	missense	probably null	1.00
R3875:Zzef1	UTSW	11	72,779,866 (GRCm39)	missense	probably benign	0.22
R3902:Zzef1	UTSW	11	72,799,326 (GRCm39)	missense	probably damaging	1.00
R3927:Zzef1	UTSW	11	72,749,208 (GRCm39)	missense	probably damaging	1.00
R4086:Zzef1	UTSW	11	72,765,879 (GRCm39)	missense	probably benign	0.02
R4301:Zzef1	UTSW	11	72,779,861 (GRCm39)	missense	probably damaging	0.96
R4359:Zzef1	UTSW	11	72,714,334 (GRCm39)	missense	probably damaging	0.98
R4382:Zzef1	UTSW	11	72,765,938 (GRCm39)	missense	probably benign	0.00
R4453:Zzef1	UTSW	11	72,763,465 (GRCm39)	missense	probably benign	0.02
R4466:Zzef1	UTSW	11	72,815,485 (GRCm39)	missense	probably damaging	1.00
R4471:Zzef1	UTSW	11	72,804,157 (GRCm39)	missense	probably damaging	1.00
R4510:Zzef1	UTSW	11	72,778,996 (GRCm39)	missense	probably benign	0.32
R4511:Zzef1	UTSW	11	72,778,996 (GRCm39)	missense	probably benign	0.32
R4714:Zzef1	UTSW	11	72,728,038 (GRCm39)	missense	probably damaging	1.00
R4799:Zzef1	UTSW	11	72,750,449 (GRCm39)	missense	probably benign	0.12
R4906:Zzef1	UTSW	11	72,792,214 (GRCm39)	missense	probably damaging	1.00
R5075:Zzef1	UTSW	11	72,749,170 (GRCm39)	missense	probably damaging	1.00
R5357:Zzef1	UTSW	11	72,734,159 (GRCm39)	nonsense	probably null
R5579:Zzef1	UTSW	11	72,791,463 (GRCm39)	missense	probably damaging	0.98
R5598:Zzef1	UTSW	11	72,807,347 (GRCm39)	missense	probably damaging	1.00
R5725:Zzef1	UTSW	11	72,746,308 (GRCm39)	missense	possibly damaging	0.86
R5765:Zzef1	UTSW	11	72,712,763 (GRCm39)	nonsense	probably null
R5928:Zzef1	UTSW	11	72,803,678 (GRCm39)	missense	probably damaging	1.00
R6003:Zzef1	UTSW	11	72,714,891 (GRCm39)	splice site	probably null
R6047:Zzef1	UTSW	11	72,756,921 (GRCm39)	missense	probably damaging	0.99
R6224:Zzef1	UTSW	11	72,746,209 (GRCm39)	missense	probably damaging	0.99
R6225:Zzef1	UTSW	11	72,760,631 (GRCm39)	missense	possibly damaging	0.62
R6287:Zzef1	UTSW	11	72,813,938 (GRCm39)	missense	probably damaging	1.00
R6361:Zzef1	UTSW	11	72,775,175 (GRCm39)	missense	possibly damaging	0.93
R6451:Zzef1	UTSW	11	72,813,982 (GRCm39)	missense	possibly damaging	0.88
R6467:Zzef1	UTSW	11	72,802,090 (GRCm39)	critical splice donor site	probably null
R6484:Zzef1	UTSW	11	72,786,097 (GRCm39)	missense	probably damaging	1.00
R6493:Zzef1	UTSW	11	72,804,129 (GRCm39)	missense	probably benign	0.06
R6520:Zzef1	UTSW	11	72,716,891 (GRCm39)	missense	probably damaging	1.00
R6527:Zzef1	UTSW	11	72,765,816 (GRCm39)	missense	probably benign	0.00
R6540:Zzef1	UTSW	11	72,804,055 (GRCm39)	missense	probably damaging	1.00
R6608:Zzef1	UTSW	11	72,803,652 (GRCm39)	missense	probably damaging	1.00
R6795:Zzef1	UTSW	11	72,741,485 (GRCm39)	missense	probably benign	0.00
R6927:Zzef1	UTSW	11	72,803,983 (GRCm39)	missense	probably damaging	1.00
R6987:Zzef1	UTSW	11	72,746,340 (GRCm39)	missense	possibly damaging	0.89
R7048:Zzef1	UTSW	11	72,757,525 (GRCm39)	nonsense	probably null
R7076:Zzef1	UTSW	11	72,790,385 (GRCm39)	missense	probably benign	0.00
R7099:Zzef1	UTSW	11	72,763,475 (GRCm39)	missense	possibly damaging	0.92
R7132:Zzef1	UTSW	11	72,808,697 (GRCm39)	critical splice donor site	probably null
R7175:Zzef1	UTSW	11	72,742,727 (GRCm39)	missense	possibly damaging	0.49
R7284:Zzef1	UTSW	11	72,777,516 (GRCm39)	missense	probably damaging	0.99
R7300:Zzef1	UTSW	11	72,765,830 (GRCm39)	missense	probably benign	0.02
R7486:Zzef1	UTSW	11	72,755,612 (GRCm39)	missense	possibly damaging	0.85
R7503:Zzef1	UTSW	11	72,716,893 (GRCm39)	missense	probably damaging	1.00
R7679:Zzef1	UTSW	11	72,784,104 (GRCm39)	missense	probably benign
R7874:Zzef1	UTSW	11	72,750,479 (GRCm39)	missense	probably benign	0.01
R7898:Zzef1	UTSW	11	72,687,373 (GRCm39)	missense	probably damaging	1.00
R7928:Zzef1	UTSW	11	72,712,722 (GRCm39)	missense	probably damaging	0.99
R8021:Zzef1	UTSW	11	72,714,242 (GRCm39)	missense	probably damaging	0.99
R8145:Zzef1	UTSW	11	72,799,295 (GRCm39)	nonsense	probably null
R8255:Zzef1	UTSW	11	72,765,955 (GRCm39)	missense	probably benign	0.00
R8303:Zzef1	UTSW	11	72,808,015 (GRCm39)	missense	probably damaging	1.00
R8492:Zzef1	UTSW	11	72,777,572 (GRCm39)	missense	probably damaging	0.97
R8492:Zzef1	UTSW	11	72,763,430 (GRCm39)	missense	probably damaging	1.00
R8498:Zzef1	UTSW	11	72,744,148 (GRCm39)	missense	probably damaging	1.00
R8547:Zzef1	UTSW	11	72,735,267 (GRCm39)	missense	probably damaging	1.00
R8874:Zzef1	UTSW	11	72,754,815 (GRCm39)	missense	probably benign	0.00
R8885:Zzef1	UTSW	11	72,687,402 (GRCm39)	missense	probably benign	0.00
R8972:Zzef1	UTSW	11	72,791,499 (GRCm39)	missense	probably damaging	1.00
R8979:Zzef1	UTSW	11	72,766,003 (GRCm39)	missense	probably benign	0.00
R9053:Zzef1	UTSW	11	72,813,302 (GRCm39)	missense	probably benign
R9108:Zzef1	UTSW	11	72,790,604 (GRCm39)	missense	probably benign	0.11
R9121:Zzef1	UTSW	11	72,756,946 (GRCm39)	nonsense	probably null
R9253:Zzef1	UTSW	11	72,739,463 (GRCm39)	splice site	probably benign
R9370:Zzef1	UTSW	11	72,744,148 (GRCm39)	missense	probably damaging	1.00
R9408:Zzef1	UTSW	11	72,755,653 (GRCm39)	missense	possibly damaging	0.86
R9467:Zzef1	UTSW	11	72,807,251 (GRCm39)	missense	probably damaging	1.00
R9468:Zzef1	UTSW	11	72,814,009 (GRCm39)	critical splice donor site	probably null
R9563:Zzef1	UTSW	11	72,765,732 (GRCm39)	missense	probably damaging	1.00
R9647:Zzef1	UTSW	11	72,760,651 (GRCm39)	missense	probably benign	0.01
R9667:Zzef1	UTSW	11	72,758,786 (GRCm39)	missense	probably benign
R9742:Zzef1	UTSW	11	72,749,179 (GRCm39)	missense	probably benign
X0028:Zzef1	UTSW	11	72,797,805 (GRCm39)	missense	probably benign	0.29
Z1176:Zzef1	UTSW	11	72,687,354 (GRCm39)	missense	probably damaging	1.00
Z1177:Zzef1	UTSW	11	72,791,457 (GRCm39)	critical splice acceptor site	probably null
Z1177:Zzef1	UTSW	11	72,717,004 (GRCm39)	missense	probably damaging	1.00
Z1177:Zzef1	UTSW	11	72,687,138 (GRCm39)	missense	possibly damaging	0.91
Z1177:Zzef1	UTSW	11	72,806,146 (GRCm39)	missense	probably damaging	1.00
Z1186:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1187:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1188:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1189:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1190:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1191:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1192:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign

Posted On

2015-04-16